Canonical Allele Identifier: CA933338573
Gene:

Linked Data

dbSNP Id: rs2097478815
gnomAD v3: 10-122458408-T-C
gnomAD v4: 10-122458408-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122458408T>C , CM000672.2:g.122458408T>C GRCh38
NC_000010.10:g.124217924T>C , CM000672.1:g.124217924T>C GRCh37
NC_000010.9:g.124207914T>C NCBI36
NG_011554.1:g.1884T>C
NG_011725.1:g.8746T>C

Transcript Alleles

HGVS Amino-acid Change
XR_946382.1:n.1827+87A>G
XR_946383.1:n.1827+87A>G
XR_946384.1:n.1576+87A>G
XR_946385.1:n.1827+87A>G
XR_946382.2:n.1855+87A>G
XR_946383.2:n.1855+87A>G
XR_946384.2:n.1580+87A>G
XR_946385.2:n.1855+87A>G
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